Seckel syndrome or (also known as microcephalic primordial dwarfism bird-headed dwarfism, Harper's syndrome, Virchow-Seckel dwarfism, and Bird-headed dwarf of Seckel ) is a [1 ] congenital nanosomic disorder.
autosomal recessive. [2 ]
It is characterized by
intrauterine growth retardation and postnatal dwarfism with a small head, narrow bird-like face with a beak-like nose, large eyes with an antimongoloid slant , receding mandible and mental retardation.
A mouse model has been developed.
Genetics [ edit ]
It is supposed to be caused by defects of genes on
and chromosome 3 . One form of Seckel syndrome can be caused by mutation in the gene encoding the 18 ataxia telangiectasia and Rad3 related protein ( ) which maps to chromosome 3q22.1-q24. This gene is central in the cell's DNA damage response and repair mechanism. ATR
History [ edit ]
The syndrome was named after
Helmut Paul George Seckel (American physician, 1900–1960). Harper's syndrome is named after [4 ] Rita G. Harper. [5 ] [6 ]
Symptoms [ edit ]
mental retardation (more than half of the patients have an IQ below 50)
cryptorchidism low birth weight
dislocations of pelvis and elbow
unusually large eyes
External links [ edit ]
See also [ edit ]
References [ edit ]
^ Harsha Vardhan BG, Muthu MS, Saraswathi K, Koteeswaran D (2007). "Bird-headed dwarf of Seckel". J Indian Soc Pedod Prev Dent. 25 Suppl: S8–9. PMID 17921644.
^ James Wynbrandt; Mark D. Ludman (February 2008). . Infobase Publishing. pp. 344–. The encyclopedia of genetic disorders and birth defects ISBN 978-0-8160-6396-3 . Retrieved 7 January 2011.
^ Murga M, Bunting S, Montaña MF, et al. (August 2009). "A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging". Nat. Genet. 41 (8): 891–8. doi: 10.1038/ng.420. PMC 2902278. PMID 19620979.
^ Seckel, H. P. G. Bird-headed Dwarfs: Studies in Developmental Anthropology Including Human Proportions. Springfield, Ill.: Charles C Thomas (pub.) 1960.
^ Harper RG, Orti E, Baker RK (May 1967). "Bird-beaded dwarfs (Seckel's syndrome). A familial pattern of developmental, dental, skeletal, genital, and central nervous system anomalies". J. Pediatr. 70 (5): 799–804. doi: 10.1016/S0022-3476(67)80334-2. PMID 6022184.